title: A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.
abstract: We present a case of classical Menkes disease (MD) due to a novel "silent" substitution in the ATP7A gene; c.2781G>A (p.K927K). The affected nucleotide is the last nucleotide in exon 13, and affects mRNA splicing. Transcripts missing exon 13; and transcripts missing exons 11, 12 and 13 in addition to a very small amount of normal spliced ATP7A transcripts were expressed. This is the first report of a synonymous ATP7A substitution being responsible for MD.
authors.affiliation: Center for Applied Human Genetics, Kennedy Center, Gl. Landevej 7, 2600 Glostrup, Denmark. Electronic address: Lisbeth.Birk.Moeller@regionh.dk.
authors.forename: Lisbeth Birk
authors.initials: LB
authors.lastname: Møller
authors.forename: Gillian
authors.initials: G
authors.lastname: Rea
authors.forename: Saiqa
authors.initials: S
authors.lastname: Yasmeen
authors.forename: Tina
authors.initials: T
authors.lastname: Skjørringe
authors.forename: Sidsel Salling
authors.initials: SS
authors.lastname: Thorborg
authors.forename: Patrick J
authors.initials: PJ
authors.lastname: Morrison
authors.forename: Deirdre E
authors.initials: DE
authors.lastname: Donnelly
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D005091:Exons; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D012326:RNA Splicing / Q000235:genetics*
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases
keywords: ATP7A; Genotype–phenotype; Menkes disease; Silent mutation